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The ELIXIR Beacon in 2018: A driver project of GA4GH

Michael Baudis

Abstract

The core mission of the Global Alliance for Genomics and Health is to “…enable genomic data sharing for the benefit of human health”. One of the instruments to enact this mission is the selection and support of driver projects, which address particular scientific, technical, regulatory or security related aspects of federated access to human genomes and related metadata.

The “Beacon” project had been initiated at the first GA4GH plenary in 2014, to test the willingness of genome resource providers to allow web-based queries in the most simple format, against aggregated genome variant data. While this particular model had limited practical utility, it established the foundation for automated queries against world-wide data resources, using a unified protocol. A secondary aspect of the Beacon project was the, intentional, challenge of existing notions of data security and privacy protection, including possible re-identification attacks and risk mitigation scenarios.

Now continued through the ELIXIR-Beacon GA4GH driver project, extensions to the Beacon protocol will provide real-world utility for genome resource access under a number of different usage scenarios. With its support for developing the Beacon protocol and distributing it throughout its members, ELIXIR is providing one of the first, widespread implementations of a GA4GH related products. Additionally, the upcoming version of the Beacon protocol is expected to be one of the first official standards which underwent the GA4GH product approval process, facilitating widespread international adoption.